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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5351 - 5375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0090103
  • Huntington's disease-like 1
  • Aliases:
    • HDL1
    • HLN1
    • Huntington disease-like 1
    • Huntington-like neurodegenerative disorder 1
    • autosomal dominant Huntington-like neurodegenerative disorder
    • early-onset prion disease with prominent psychiatric features
Rattus norvegicus (Norway rat)
DOID:2957
  • pulmonary tuberculosis
Caenorhabditis elegans
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Homo sapiens (human)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Drosophila melanogaster (fruit fly)
DOID:1580
  • diffuse scleroderma
  • Aliases:
    • diffuse systemic sclerosis
    • systemic sclerosis, diffuse
Homo sapiens (human)
DOID:446
  • primary hyperaldosteronism
  • Aliases:
    • Cushing syndrome
    • Cushing's syndrome
    • hyperaldosteronism
Danio rerio (zebrafish)
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Caenorhabditis elegans
DOID:0080893
  • Bainbridge-Ropers syndrome
  • Aliases:
    • ASXL3-related disorder
Homo sapiens (human)
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Rattus norvegicus (Norway rat)
DOID:12689
  • acoustic neuroma
  • Aliases:
    • Vestibular Neurilemmoma
    • Vestibular schwannoma
Rattus norvegicus (Norway rat)
DOID:790
  • ocular hypotension
  • Aliases:
    • Hypotony of eye
Danio rerio (zebrafish)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Mus musculus (house mouse)
DOID:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Xenopus laevis (African clawed frog)
DOID:0081345
  • congenital myopathy 10B
Mus musculus (house mouse)
DOID:0081119
  • benign familial infantile seizures 6
  • Aliases:
    • Autosomal dominant nocturnal frontal lobe epilepsy
    • Benign Familial Infantile Seizures, 6
    • nocturnal frontal lobe epilepsy-4
Homo sapiens (human)
DOID:1827
  • idiopathic generalized epilepsy
  • Aliases:
    • Generalised epilepsy
Mus musculus (house mouse)
DOID:0060539
  • Hermansky-Pudlak syndrome 1
Saccharomyces cerevisiae S288C
DOID:0110681
  • congenital myasthenic syndrome 2A
  • Aliases:
    • CMS2A
    • congenital myasthenic syndrome 2A slow-channel
Drosophila melanogaster (fruit fly)
DOID:0111028
  • hemochromatosis type 4
  • Aliases:
    • HFE4
    • autosomal dominant hereditary hemochromatosis
    • ferroportin disease
    • hemochromatosis due to defect in ferroportin
Homo sapiens (human)
DOID:0080567
  • congenital disorder of glycosylation Ip
  • Aliases:
    • congenital disorder of glycosylation 1p
Drosophila melanogaster (fruit fly)
DOID:0112063
  • X-Linked immunodeficiency 74
  • Aliases:
    • IMD74
    • TLR7 deficiency
    • X-linked immunodeficiency 74,COVID-19-related
    • respiratory insufficiency due to SARS-CoV-2 viral infection
Mus musculus (house mouse)
DOID:9743
  • diabetic neuropathy
Xenopus tropicalis (tropical clawed frog)
DOID:5213
  • chronic inflammatory demyelinating polyradiculoneuropathy
Homo sapiens (human)
DOID:3308
  • embryonal carcinoma
  • Aliases:
    • primary extragonadal embryonal carcinoma
Mus musculus (house mouse)
DOID:0080132
  • Sengers syndrome
  • Aliases:
    • mitochondrial DNA depletion syndrome 10
    • mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Homo sapiens (human)
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Last updated: December 9, 2024